RGD:13836036 Rat Genome Database

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Variant: RGD:13836036 -  Homo sapiens

RGD ID: 13836036
RS ID: rs140963177
ClinVar ID: CV587303
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 77,896,133
GRCh38 8 76,983,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008371.1:g.21392A>T
NC_000008.11:g.76983897T>A
NC_000008.10:g.77896133T>A
NP_001165558.2:p.Arg94Ser
More... 		02/13/2024 missense variant likely benign|uncertain significance none provided; Peroxisome biogenesis disorder 5B; Zellweger Spectrum; Zellweger Spectrum Disorder; Zellweger syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PEX2
Accession:NM_001172086
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLSYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_001079867
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLSYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_000318
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLSYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*

Gene Symbol:PEX2
Accession:NM_001172087
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 94
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSV
LNIKYKNDFSPNLSYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQR
GKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATS
GKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000732005 CLINVAR
  RCV001163870 CLINVAR
  RCV001250053 CLINVAR
  RCV001825468 CLINVAR
  RCV002535252 CLINVAR
  RCV003918211 CLINVAR
dbSNP (RS) rs140963177 CLINVAR
MedGen C0043459 CLINVAR
  C0950123 CLINVAR
  C3553940 CLINVAR
  C3661900 CLINVAR
NCBI Gene PEX2 CLINVAR
OMIM 170993 CLINVAR
  214100 CLINVAR
  614866 CLINVAR
  614867 CLINVAR